Amyotrophic Lateral Sclerosis, Research Paper Example

Amyotrophic lateral sclerosis, or ALS, is a progressive neurological disease that is also commonly known as “Lou Gehrig’s disease.” It is degenerative, affecting nerve cells in the brain and the spinal cord (What Is ALS? 2010.)  During the course of the disease, motor neurons travel from the brain to the spinal cord, where they progress to the muscles throughout the body. Ultimately, this process leads to death, but before that the motor neurons die, diminishing and eventually eliminating the ability of the brain to initiate and control muscle movement. This paper will present a description of the disease, including current statistics regarding incidence, as well as the ways in which various body systems are affected; medication and treatments will also be explored.

The name of the condition can be dissected to understand the medical implications caused by the disease. For example, “amyotrophic” describes the muscle atrophy, weakness, and fasciculation that typify the disease of the lower motor neurons (Roland, 2001.) “Lateral sclerosis” are the terms used to refer to the hardness of palpation of the lateral columns of the spinal cord that have been observed in autopsy specimens; gliosis is the result of the degeneration of the corticospinal tracts. The physical results produce upper motor neuron signs that include overactive tendon reflexes, Hoffmann signs, clonus, and Babinski signs (Schneider, 2001.) If only lower motor neuron signs are apparent, however, the condition is referred to as “progressive spinal muscular atrophy.” In primary lateral sclerosis, the upper motor neuron signs alone are visible. These syndromes are considered versions of ALS because as autopsies reveal, there are likely to be malformations in both the upper and lower motor neurons.

Despite receiving the devastating diagnosis of ALS, patients have the potential to live productive lives with the disease for years because there are increasing bodies of research that have resulted in improved ways of managing the disease. For example, the knowledge that controlling nutrition as well as learning breathing techniques can extend the lives of patients with ALS. Approximately half of the patients live at least two years after the diagnosis, 20% live for five years or more and nearly 10% are able to survive more than 10 years (Pandey, 2011.) Typically, patients who are diagnosed with ALS are between the ages of 40 and 75, although most of the patients are identified after the age of 60. The disease is considered to be rare, the incidence being approximately 2 people per 100,000 per year; it is more common in men than women, and the incidence of ALS is five times higher than Huntington’s Disease and about half that of multiple sclerosis (Pandey, 2011.) Although there is currently no cure for ALS, riluzole treatment can increase the survival rate briefly, by perhaps 4 to 6 months, and the illness occurs globally without regard to racial, ethnic, or socioeconomic status.

Genetic defects cause 10% of cases of ALS, with the other 99% stemming from unknown causes (Jasmine, 2012.) The only known risk factor for developing ALS is having a family member who has a genetic form of the disease. During the process of the illness, neurons disintegrate or die, losing the ability to send messages to muscles; eventually, this causes muscle weakness, twitching, and an increasing inability to move the limbs and body. As the condition progresses and worsens, the muscles in the chest stop working, making it difficult and ultimately impossible to breathe.

To be diagnosed with ALS, patients must have signs and symptoms of both upper and lower motor neuron damage that cannot be attributed to other causes (Amyotrophic Lateral Sclerosis Fact Sheet, 2012.) Typically, symptoms of ALS do not appear until after the age of 50 although they can start in younger patients more rarely. Afflicted patients lose muscle strength, as well as coordination, worsening until it becomes impossible to perform activities of daily living such as going up steps, rising from a chair, or swallowing. The first muscles to be affected by the disease are those which involve breathing and swallowing, but during the progression other muscle groups become problematic as well. ALS does not generally affect the senses of sight, smell, taste, hearing, or touch, and only rarely has an impact on bladder or bowel control, eye movement, or a patient’s ability to think or reason (Jasmine, 2012.)

In its final stages, ALS leads to paralysis, speech problems including slow or abnormal speech patterns such as slurring of words, voice changes and hoarseness; it also causes weight loss often to such a degree that the patient becomes unable to get up, walk, or perform daily activities. Each individual’s progression of the disease is different, but eventually patients will be unable to stand or walk, get in or out of bed on their own, or use their hands and arms. Problems swallowing and chewing interfere with a patient’s ability to eat normally, and the risk of choking increases. As a result, it becomes difficult for patients to maintain a survivable weight. ALS does not typically affect cognitive abilities, so that patients remain aware of their increasing loss of function and may become anxious and depressed (Amyotrophic Lateral Sclerosis Fact Sheet, 2012.)

In addition, a small group of patients may develop difficulties with memory or decision-making abilities, and there is increasing awareness that some may even develop a type of dementia. As a result, healthcare providers are in a position to explain the course of the disease and available treatment options to patients in order to help them make informed decisions in advance. In the late stages of the disease, patients have problems breathing because the muscles of the respiratory system become weaker, resulting in an inability to breathe independently, and creating the need for ventilatory support in order to survive. Patients also face an increased risk of pneumonia during later stages of ALS (Amyotrophic Lateral Sclerosis Fact Sheet, 2012.)

In order to establish a definitive diagnosis of ALS, patients must have electrophysiological tests that are designed to confirm lower motor dysfunction that affects  uninvolved areas, as well as to rule out other similar diseases. When the diagnosis of ALS is suspected, and neurophysiologic abnormalities cannot by themselves confirm the diagnosis without clinical support, it is vital to conduct a clinical neurophysiology exam (Leigh, 2009.) The tests that are most useful for diagnosis include:

• nerve conduction studies, designed mainly to identify and exclude other malfunctions of peripheral nerve, neuromuscular junction and muscle that may imitate or complicate the diagnosis of ALS;
• motor studies, which are crucial in order to exclude multi-focus motor neuropathy by discovering partial conduction block;
• F-wave studies, which are also used to evaluate proximal conduction and abnormalities which have been discovered in patients with ALS;
• traditional EMG, which provides evidence of lower motor neural dysfunction that is necessary to confirm a diagnosis of ALS, and must be found in at least two of the four central nervous system regions;
• transcranial magnetic stimulation, and central motor conduction studies, which permit a noninvasive assessment of corticospinal motor pathways, and permits detection of lesions that support the diagnosis; and
• quantitative electromyography, which is a technique that is able to give a quantitative estimate of the number of axons stimulating a muscle or a collection of muscles (Leigh, 2009.)

There is no cure for ALS, although the FDA has approved a drug treatment known as riluzole for the disease,  a medication that is thought to reduce damage to motor neurons by lessening the release of glutamate (Amyotrophic Lateral Sclerosis Fact Sheet, 2012.) The treatment is believed to extend the survival rate of patients by several months, particularly for patients with difficulty swallowing. In addition, riluzole delays the need for a patient to have to use a ventilator to breathe. However, riluzole is not able to reverse damage that is already done to motor neurons, and can possibly cause liver damage and other serious side effects. Nevertheless, because the medication is the first drug specific to ALS, it has raised hopes that in the future, progression of the disease may be slowed further by newer medications or mixtures of drugs.

Despite the lack of a cure, there are other treatments prescribed to relieve symptoms and maintain quality of life circumstances for patients. Ideally, a multidisciplinary team of healthcare providers provides many forms of supportive care, so that working together with patients and caregivers an individualized plan of medical and physical therapy can be developed. This should include the use of special equipment provided to help patients remain independent, mobile, and comfortable for as long as possible. Symptom relief can be provided with medications designed to reduce fatigue, muscle cramps, and spasticity, as well as other medications to assist patients who are suffering from pain, depression, and sleep disorders. In addition gentle, low impact aerobic exercise, including walking, swimming, and stationary bicycling, can strengthen the muscles that have not yet been affected by the disease as well as improve cardiovascular health (Amyotrophic Lateral Sclerosis Fact Sheet, 2012.) Occupational therapists can recommend devices such as braces, ramps and walkers to help patients conserve their energy while being able to move around. Eventually, patients may need to consider using ventilators which, although they can ease the difficulties with breathing as well as extend the life of the patient, do not alter the progression of the disease. As a result, patients and their families who are considering this option must be thoroughly educated about the long-term effects of living without the ability to move, which is a major, life altering problem for people who are using ventilators to breathe.

Certainly, a diagnosis of ALS is accompanied by tremendous physical and emotional changes which impact the patient as well as loved ones. A tremendous amount of research is being conducted to find treatment and cures for ALS, so that receiving such a diagnosis today means a somewhat different disease course that which was inevitable even 10 years ago. Nevertheless, it is still an incurable disease that is likely to bring heartache and terror to people who receive such a diagnosis, because ultimately, there is no way to avoid the loss of physical control that Lou Gehrig’s Disease inevitably brings.

References

Amyotrophic Lateral Sclerosis Fact Sheet. (2012, March). Retrieved December 18, 2012, from National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm

Jasmine, L. (2012, August 26). Amyotrophic Lateral Sclerosis. Retrieved December 18, 2012, from US National Library of Medicine: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001708/

Leigh, L. W. (2009, February 3). Amyotrophic Lateral Sclerosis. Retrieved December 18, 2012, from Orphanet Journal of Rare Diseases: http://www.ojrd.com/content/4/1/3

Pandey, U. (2011). ALS Facts and Statistics. Retrieved December 18, 2012, from The Robert Packard Center for ALS Research at Johns Hopkins: http://www.alscenter.org/living_with_als/facts_statistics.html

Schneider, L. R. (2001, May 31). Amyotrophic Lateral Sclerosis. Retrieved December 18, 2012, from The New England Journal Of Medicine: http://www.nejm.org/doi/full/10.1056/NEJM200105313442207

What Is ALS? (2010). Retrieved December 18, 2012, from ALS Association: http://www.alsa.org/about-als/what-is-als.html